Facultad de Ciencias de la Salud
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José Alberto
Escudero Valenzuela
Publications dans lesquelles il/elle collabore avec José Alberto Escudero Valenzuela (4)
2022
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Splicing predictions, minigene analyses, and ACMG-AMP clinical classification of 42 germline PALB2 splice-site variants
Journal of Pathology, Vol. 256, Núm. 3, pp. 321-334
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Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants
Cancers, Vol. 14, Núm. 18
2019
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Minigene splicing assays identify 12 spliceogenic variants of BRCA2 exons 14 and 15
Frontiers in Genetics, Vol. 10, Núm. MAY
2018
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Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants
Breast Cancer Research and Treatment, Vol. 171, Núm. 1, pp. 53-63